Have You Seen This?: Psychosocial Implications of Germline Testing

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Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


Have You Seen This? 

Psychosocial Outcomes Following a Multigene Test for Breast, Ovarian and Pancreatic Cancer

October 26, 2022

DELRAY BEACH, FL – One of the barriers to implementation for germline genetic testing into standard of care is the perceived notion that patients may have a negative emotional and social response to the results, especially in cases of high mortality. The National Comprehensive Cancer Network recommends germline testing for all ovarian cancer patients, pancreatic cancer patients and all breast cancer patients that meet guidelines.1 Despite the NCCN guidelines regarding multigene panel germline testing for these cancer patients, there is still a reluctance to apply NCCN recommendations based on the perceived psychosocial stability of the patient.

A new study published in the American Society of Clinical Oncology’s Journal of Clinical Oncology examined the psychosocial response of breast, ovarian and pancreatic cancer patients to the results and dissemination of a multigene germline panel. The data collected showed that multigene panel testing did not “significantly increase cancer worry or cause a substantially negative psychosocial impact…[Patients] had high levels of positive responses and low levels of negative responses, and [all patients] generally had an accurate understanding of their test results.”1 The study also collected the following patient responses regarding their positive reaction to test results and desire for knowledge1:

“Knowledge is always good. I would appreciate knowing anything new, even if it has no impact on my medical care.”

“Grateful that it gave me answers as to why I may have developed the cancer I did and especially that it may help my family.”

“I would love to know if any more genes have been linked to cancer. I want to give my family the best chance they have against this.”

Even with no pathogenic variant found in their testing results, “participants still found genetic testing and counseling useful.”1 At the conclusion of this study, the researchers encouraged physicians to offer all their breast, ovarian and pancreatic cancer patients germline testing, no matter how they believe the patient might respond. The germline multigene panel results could change treatment decisions and empower patients in their cancer prognosis.

  1. Koptiuch C, Espinel WF, Kohlmann WK, Zhao J, Kaphingst KA. Implications of Multigene Panel Testing on Psychosocial Outcomes: A Comparison of Patients With Pancreatic and Breast or Ovarian Cancer. JCO Precis Oncol. 2021;5:PO.20.00199. Published 2021 Jan 19. doi:10.1200/PO.20.00199
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